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Review
. 2018 Aug 12;2018(3):23.
doi: 10.21542/gcsp.2018.23.

Perspectives on current recommendations for genetic testing in HCM

Lorenzo Monserrat  1
Affiliations
Review

Perspectives on current recommendations for genetic testing in HCM

Lorenzo Monserrat. Glob Cardiol Sci Pract. .
No abstract available

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Figures

Figure 1.
Figure 1.. Summary of criteria for the evaluation of the pathogenicity of genetic variants.
Modified from the criteria of the American Board of Medical Genetics.
Figure 2.
Figure 2.. Kaplan–Meier survival curves free of sudden death, appropriate defibrillator shock, heart failure death, or cardiac transplant for patients and relatives with pathogenic or likely pathogenic variants in five of the main sarcomeric genes associated with HCM.
Pathogenicity of variants was classified according to current recommendations (18 FLNC).
Figure 3.
Figure 3.. Kaplan–Meier survival curves free of sudden death, appropriate defibrillator shock, heart failure death, or cardiac transplant for patients and relatives with the Arg719Gln variant in MYH7 (orange line), compared with other variants affecting the same helix (aminoacids 715 to 721)(red line), with all pathogenic variants affecting the MYH7 converter domain (amino acids 712 to 749)(green line), and with all pathogenic missense variants in MYH7 (blue line).
See this image and copyright information in PMC

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References

    1. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases. Eur Heart J. 2007;29(2):270–6. - PubMed
    1. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) Eur Heart J. 2014;35(39):2733–79. - PubMed
    1. Monserrat L, Mazzanti A, Ortiz-Genga M, Barriales-Villa R, Garcia D, Gimeno-Blanes JR. The interpretation of genetic tests in inherited cardiovascular diseases. Cardiogenetics. 2011;1:e8.
    1. Monserrat L, Ortiz-Genga M, Lesende I, Garcia-Giustiniani D, Barriales-Villa R, de Una-Iglesias D, et al. Genetics of cardiomyopathies: novel perspectives with next generation sequencing. Curr Pharm Des. 2015;21(4):418–30. - PubMed
    1. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715–26. - PubMed

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